SLC9C1
solute carrier family 9 member C1
- Ensembl:
- ENSG00000172139, ENSG00000285044
- UniProt:
- Q4G0N8
- OMIM:
- 612738
- Synonyms:
- NHE, SLC9A10
Cilia effects upon perturbation of SLC9C1
Ciliogenesis screen results (3 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=755, lfc=0.66) PMID:30270045
Subcellular localization
flagella
Functional category
- Actin & cytoskeleton regulation
- T cell biology
- Reproduction & sperm
- Cell migration & adhesion
- Signaling (Hedgehog, GPCRs, ion channels)
Function
Indirect immunofluorescence microscopy of mouse caudal epididymal spermatozoa demonstrated that the NHE was localized to the principle piece of the sperm flagellum (14634667).
Model organism evidence
Mus musculus (2 references)
Slc9c1 encodes a sperm-specific Na+/H+ exchanger (sNHE/SLC9C1) that localizes to the flagellum and is indispensable for sperm motility and male fertility.
We describe here the case of an infertile man, displaying asthenozoospermia without major morphological flagellar anomalies and carrying a homozygous splicing mutation in SLC9C1 (sNHE), which we identified by whole-exome sequencing.